ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 995; N. variants: 85
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913470
rs121913470
0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2008 2016
dbSNP: rs121913468
rs121913468
0.827 0.160 17 39724008 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2006 2016
dbSNP: rs121913471
rs121913471
0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2011 2016
dbSNP: rs1057519738
rs1057519738
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2006 2016
dbSNP: rs758222990
rs758222990
1.000 0.080 17 39725363 missense variant C/G;T snv 1.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2006 2013
dbSNP: rs1057519737
rs1057519737
17 39724750 inframe insertion -/GCTCCCCAG delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1057519787
rs1057519787
1.000 0.040 17 39711952 missense variant G/A;C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519857
rs1057519857
0.882 0.080 17 39724772 missense variant T/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1057519890
rs1057519890
0.807 0.200 17 39723966 missense variant T/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1131692241
rs1131692241
17 39723966 inframe deletion TGAGGGAAAACACAT/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs121913469
rs121913469
0.763 0.240 17 39723966 missense variant TT/CC mnv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs397516979
rs397516979
1.000 0.080 17 39724744 protein altering variant -/TCT;TGT;TTT ins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1058808
rs1058808
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1136201
rs1136201
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs777081311
rs777081311
0.925 0.080 17 39710347 missense variant T/C snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017